amino acid metabolic disorder phenylketonuria true true DOID:9281 OMIM mapping confirmed by DO. [SN]. MTHICD9_2006:270.1 PKU disease_ontology F��lling's disease DOID:14455 OMIM:261600 NCI:C81315 maternal phenylketonuria MESH:D010661 CSP2005:1849-1177 GARD:7383 https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/inborn-errors/phenylketonuria ICD9CM:270.1 phenylalaninemia MESH:D017042 UMLS_CUI:C0031485 UMLS_CUI:C0085547 An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. ORDO:716